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Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.
Pirruccello, James P; Bick, Alexander; Wang, Minxian; Chaffin, Mark; Friedman, Samuel; Yao, Jie; Guo, Xiuqing; Venkatesh, Bharath Ambale; Taylor, Kent D; Post, Wendy S; Rich, Stephen; Lima, Joao A C; Rotter, Jerome I; Philippakis, Anthony; Lubitz, Steven A; Ellinor, Patrick T; Khera, Amit V; Kathiresan, Sekar; Aragam, Krishna G.
Afiliación
  • Pirruccello JP; Division of Cardiology, Massachusetts General Hospital, Boston, MA, USA.
  • Bick A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Wang M; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA.
  • Chaffin M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Friedman S; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA.
  • Yao J; Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Guo X; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA.
  • Venkatesh BA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA.
  • Taylor KD; Data Sciences Platform, Broad Institute, Cambridge, MA, USA.
  • Post WS; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
  • Rich S; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
  • Lima JAC; Department of Radiology, Johns Hopkins University, Baltimore, MA, USA.
  • Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
  • Philippakis A; Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MA, USA.
  • Lubitz SA; Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MA, USA.
  • Ellinor PT; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.
  • Khera AV; Department of Radiology, Johns Hopkins University, Baltimore, MA, USA.
  • Kathiresan S; Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MA, USA.
  • Aragam KG; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
Nat Commun ; 11(1): 2254, 2020 05 07.
Article en En | MEDLINE | ID: mdl-32382064
Dilated cardiomyopathy (DCM) is an important cause of heart failure and the leading indication for heart transplantation. Many rare genetic variants have been associated with DCM, but common variant studies of the disease have yielded few associated loci. As structural changes in the heart are a defining feature of DCM, we report a genome-wide association study of cardiac magnetic resonance imaging (MRI)-derived left ventricular measurements in 36,041 UK Biobank participants, with replication in 2184 participants from the Multi-Ethnic Study of Atherosclerosis. We identify 45 previously unreported loci associated with cardiac structure and function, many near well-established genes for Mendelian cardiomyopathies. A polygenic score of MRI-derived left ventricular end systolic volume strongly associates with incident DCM in the general population. Even among carriers of TTN truncating mutations, this polygenic score influences the size and function of the human heart. These results further implicate common genetic polymorphisms in the pathogenesis of DCM.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos